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Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.

• Sargiannidou, I., N. Vavlitou, S. Aristodemou, A. Hadjisavvas, K. Kyriacou, S.S. Scherer, and K.A. Kleopa (2009) J. Neurosci. 29:4736-4749.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

• Orthmann-Murphy J.L., E. Salsano, C.K. Abrams, A. Bizzi, G. Uziel, M. Freidin, E. Lamantea, M. Zeviani, S.S. Scherer, D. Pareyson (2008) Brain 132:426-438.

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.

• Sargiannidou, I., M. Ahn, A.D. Enriquez, A. Peinado, R. Reynolds, C. Abrams, S.S. Scherer, and K.A. Kleopa (2008) Neurobiol. Dis. 30: 221-233.

Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct.

• Ahn, M., J. Lee, A. Gustafsson, A. Enriquez, E. Lancaster, J.-Y. Sul, P.G. Haydon, D.L. Paul, Y. Huang, C.K. Abrams, and S.S. Scherer (2008) J. Neurosci. Res. 86:992-1006.

Molecular mechanisms of inherited demyelinating neuropathies.

• Scherer, S.S. and L. Wrabetz (2008) Glia 56:1578-1589.

Gap junctions couple astrocytes and oligodendrocytes.

• Orthmann-Murphy, J.L., C.K. Abrams, and S.S. Scherer (2008) J. Mol. Neurosci. 35:101-116.

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

• Orthmann-Murphy, J.L., M. Freidin, E. Fischer, S.S. Scherer, and C.K. Abrams (2007) J. Neurosci. 27:13949-14957.

Nectin-like proteins mediate axon-Schwann cell interactions along the internode and are essential for myelination.

• Maurel, P., S. Einheber, J. Galinska, P. Thaker, I. Lam, M.B. Rubin, S.S. Scherer, Y. Murakami, D.H. Gutmann, D.H., J.L. Salzer (2007) J. Cell Biol. 178:861-874.

Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.

• Yum, S.W., J.-x. Zhang, V. Vallunas, P.R. Brink, T.L. White, and S.S. Scherer (2007) Am. J. Physiol. C 293:1032-1048.

A central role for Necl4/SynCAM4 in Schwann cell-axon interaction and myelination.

• Spiegel, I., K. Adamsky, Y. Eshed, R. Milo, O. Sarig-Nadir, I. Horresh, S.S. Scherer, M.N. Rasband, and E. Peles (2007) Nat. Neurosci. 10:861-869.

Loss-of-function Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.

• Orthmann-Murphy, J.L., A.D. Enriquez, C.K. Abrams, and S.S. Scherer (2007) Mol. Cell. Neurosci. 34:629-641.

CMT1X phenotypes represent loss of GJB1 gene function.

• Shy, M.E., C. Siskind, E. Swan, K.M. Krajewski, T. Doherty, D.R. Fuerst, P.J. Ainsworth, R.A. Lewis, S.S. Scherer, and A. Hahn (2007) Neurology 68:849-855.

Pannexin1 is expressed by neurons and glia but does not form functional gap junctions.

• Huang, Y., J.B. Grinspan, C.K. Abrams, and S.S. Scherer (2007) Glia 55:46-56.

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity.

• Menichella, D.M., M. Majdan, R. Awatramani, D.A. Goodenough, E. Sirkowski, S.S. Scherer, D.L. Paul (2006) J. Neurosci. 26:10984-1099.

Inherited neuropathies: new genes don’t fit old models.

• Scherer, S.S. (2006) Neuron 51: 672-674.

Finding the causes of inherited neuropathies.

• Scherer, S.S. (2006) Arch. Neurol. 63:812-816.

The effects of a dominant connexin32 mutant in myelinating Schwann cells.

• Jeng, L.J.B., A. Messing, R. Balice-Gordon, K.H. Fischbeck, and S.S. Scherer (2006) Mol. Cell. Neurosci. 32:283-298.

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations.

• Kleopa, K.A., L.B. Elman, B. Lang, A. Vincent, and S.S. Scherer (2006) Brain 129:1570-1584.

Molecular Genetics of X-linked Charcot-Marie-Tooth Disease.

• Kleopa, K.A. and S.S. Scherer (2006) NeuroMolec. Med. 8:107-122.

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon.

• Pan, Z., T. Kao, Z. Horvath, S. Cranston, J. Lemos, J.-Y. Sul, V. Bennett, S.S. Scherer, and E.C. Cooper (2006) J. Neurosci. 26:2599-2613. (including the cover image)

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

• Shy, M.E., M.T. Scavina, A. Clark, K.M. Krajewski, J. Li, J. Kamholz, E.H. Kolodny, K. Szigeti, R.A. Fischer, G.M. Saifi, S.S. Scherer, J.R. Lupski (2006) Ann. Neurol. 59:358-364.

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild type connexin32 in myelinating Schwann cells.

• Huang, Y., Sirkowski, E.E., Stickney, J.T., Scherer, S.S. (2005) J. Neurosci.

Transgenic expression of human Connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.

• Scherer, S.S., et al. (2005) J. Neurosci.

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

• Devaux, J.J., Scherer, S.S. (2005) J. Neurosci.

Acute demyelination disrupts the molecular organization of PNS nodes.

• Arroyo, E.J., Sirkowski, E.E., Chitale, R., Scherer, S.S. (2004) J. Comp. Neurol.

Expression analysis of the N-myc downstream-regulated gene 1 (NDRG1) indicates that myelinating Schwann cells are the primary disease target in Hereditary Motor and Sensory Neuropathy-Lom.

• Berger, P., Sirkowski, E.E., Scherer, S.S., Suter, U. (2004) Neurobiol. Dis.

Expression analysis of the N-myc downstream-regulated gene 1 (NDRG1) indicates that myelinating Schwann cells are the primary disease target in Hereditary Motor and Sensory Neuropathy-Lom.

• Berger, P., Sirkowski, E.E., Scherer, S.S., Suter, U. (2004) Neurobiol. Dis.

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes.

• Kleopa, K.A., et al. (2004) Glia

KCNQ2 is a nodal K+ channel.

• Devaux, J.J., Kleopa, K.A., Cooper, E.C., Scherer, S.S. (2004) J. Neurosci.

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

• Taylor, R.A., Simon, E.M., Marks, H.G., Scherer, S.S. (2003) Neurology 61: 1475-1478.

Connexins are critical for normal myelination in the central nervous system.

• Menichella, D., et al. (2003) J. Neurosci. 23: 596-5973

Kv3.1b is a novel component of CNS nodes.

• Devaux, J.J., et al. (2003) J. Neurosci. 23: 4509-4518

Disease mechanisms in inherited neuropathies.

• Suter, U., Scherer, S.S. (2003) Nat. Rev. Neurosci. 4:714-726

Diverse trafficking abnormalities for connexin32 mutants causing CMTX.

• Yum, S.W/, Kleopa, K.A., Shumas, S., Scherer, S.S. (2002)